Medical analysis laboratory

The Medical Analysis Laboratory of the IMOGEN center provides services of investigation for prenatal screening and diagnosis for patients and also research projects in the field of pre-and postnatal medicine.

The development of modern medicine, of the methods and the techniques of investigation had great momentum in the last decade, bringing an important benefit for patients and physicians practicing in terms of quality and confidence.
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The screening of serum markers from maternal blood has become a standard tool used in obstetrical care to identify pregnancy that may have an increased risk for certain birth defects or genetic defects such as Down syndrome, Edward, Patau or neural tube defects.

From 2002 to the present double and triple test were established as the best alternative analysis in the prenatal screening programs to detect these genetic defects. These tests are recommended for all pregnant women as early safety detection in their pregnancy.
In this idea in the prenatal screening, the Medical Analysis Laboratory performs on the automatic analizer – Delfia Xpress 6000 following investigations in first and second trimester:

The purpose of this test is the determination of PAPP-A, TN and free hCGβ and used to calculate the mother’s risk to have a fetus with chromosomal abnormality (Down’s syndrome, Patau and Edwards).
PAPP-A (pregnancy-associated plasma protein A) is a glycoprotein wich is secreted from the trofoblastic tissues of the placenta and released into the blood, taking a role in the growth of the fetus.
Human chorionic gonadotropin (hCG) is a glycoprotein that consists of 2 subunits: alpha and beta. Is produced by syncytiotrophoblast cells of the placenta, very early in pregnancy and is intended to maintain the corpus luteum and progesterone production in the first trimester of pregnancy.

Biochemical markers for screening for risk of chromosomal abnormalities and neural tube defects in the second trimester of pregnancy (during the weeks 15-19 + 6 days) from maternal serum: hAFP, free hCGβ and uE3.

Human alpha-fetoprotein (hAFP) is a glycoprotein of fetal origin, synthesized by the embryonic yolk sac cells and later by the fetal liver.
In unaffected pregnancies, the level of AFP increases with gestation in maternal serum and decreases in amniotic fluid. AFP can be used in screening for neural tube and abdominal wall defects.

The level of AFP is reduced in pregnancies affected by Down’s syndrome and Edward’ s syndrome and serum is increased in neural tube defects like :spina bifida and anencephaly.
Unconjugated estriol (uE3) is a steroid of feto-placental origin. In maternal serum, estriol can be measured in its unconjugated form.
The maternal serum level of unconjugated estriol is reduced in pregnancies affected by Down’s syndrome, Edwards’ syndrome or by neural tube defects.

If a test is positive for a genetic syndrome is necessary to confirm the diagnosis through definitive tests, genetic testing through QF-PCR method or Karyotyping through G bands: